Canonical Allele Identifier: CA9452878
Gene: CYP2A6 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.40846048G>C
GRCh37 chr19:g.41351953G>C
Revel Score:
ENST00000301141 (MANE Select) 0.124
gnomAD v2:
19:41351953 G / C
gnomAD v3:
19:40846048 G / C
gnomAD v4:
chr19-40846048-G-C
Joint Max Group AF 0.00038117 (AFR)
Genomes Max Group AF 0.00022362 (AFR)
Exomes Max Group AF 0.00046936 (AFR)
dbSNP:
4997557
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40846048G>C , CM000681.2:g.40846048G>C GRCh38
NC_000019.9:g.41351953G>C , CM000681.1:g.41351953G>C GRCh37
NC_000019.8:g.46043793G>C NCBI36
NG_008377.1:g.9400C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301141.10:c.881C>G MANE Select ENSP00000301141.4:p.Thr294Ser
ENST00000301141.9:c.881C>G ENSP00000301141.4:p.Thr294Ser
ENST00000596719.5:n.732C>G
ENST00000600495.1:c.*693C>G ENSP00000472905.1:n.*693C>G
ENST00000601627.1:c.119+44633G>C
ENST00000610301.1:c.881C>G ENSP00000477899.1:p.Thr294Ser
NM_000762.5:c.881C>G NP_000753.3:p.Thr294Ser
NM_000762.6:c.881C>G MANE Select NP_000753.3:p.Thr294Ser
Search 100 bp 5'
Search 100 bp 3'